Therese Gadomski

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Jacob J. Michaelson, Yujian Shi, Madhusudan Gujral et al. · Cell · 2012 · 573 citations · Full text

Whole-genome Sequencing, Sequencing, Syndromic Autism +9

Frequency and Complexity of De Novo Structural Mutation in Autism

William M. Brandler, Danny Antaki, Madhusudan Gujral et al. · The American Journal of Human Genetics · 2016 · 107 citations · Full text

Syndromic Autism, Genetic Disorder, Genetics +6

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

Willy Morelle, Sven Potelle, Peter Witters et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 80 citations · Full text

Oral D-galactose supplementation in PGM1-CDG

Sunnie Wong, Therese Gadomski, Monique van Scherpenzeel et al. · Genetics in Medicine · 2017 · 78 citations · Full text

Medicine, Diabetes, Oral D-galactose Supplementation +3

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Sunnie Wong, Lesa J. Beamer, Therese Gadomski et al. · The Journal of Pediatrics · 2016 · 53 citations · Full text

Autoimmune Disease, Genetic Disorder, Genetics +5